ライフサイエンスコーパス: mismatch repair gene

1 ell as germ-line mutations in several of the mismatch repair genes).

2 uanine-DNA methyltransferase gene, and hMLH1 mismatch repair gene.

3 MLH1 methylation failed to express the MSH2 mismatch repair gene.

4 ctivation of both copies of the hMSH6 (GTBP) mismatch repair gene.

5 an homologs of the Escherichia coli mutL DNA mismatch repair gene.

6 4741, has an additional mutation in the MSH3 mismatch repair gene.

7 nts with pathogenic germline variants in DNA mismatch repair genes.

8 r etiology: oncogenes, suppressor genes, and mismatch repair genes.

9 s a surrogate marker for the inactivation of mismatch repair genes.

10 ic variant in the BRCA1/2, PTEN, TP53 or DNA mismatch repair genes.

11 individuals with germ-line mutations in DNA mismatch repair genes.

12 ld-type cells is mainly caused by functional mismatch repair genes.

13 lso be a valuable tool in the search for new mismatch repair genes.

14 cluding tumor suppressor, mitochondrial, and mismatch repair genes.

15 results from defects in one of several base mismatch repair genes.

16 r defect does not reside in these five known mismatch repair genes.

17 somatic hypermethylation or mutations in the mismatch repair genes.

18 l cancer is caused by inherited mutations of mismatch repair genes.

19 linked to germline defects in at least four mismatch repair genes.

20 ologous to members of the mutS family of DNA mismatch repair genes.

21 and human tumor cell lines with mutations in mismatch repair genes.

22 usually attributed to mutations of critical mismatch repair genes.

23 (n = 98), and 8 (0.4%) had mutations in DNA mismatch repair genes.

24 d genotype-phenotype associations within the mismatch repair genes.

25 conferred by germline or somatic variants in mismatch repair genes.

26 ype that harboured inactivating mutations in mismatch repair genes.

27 t a young age, due to inherited mutations in mismatch repair genes.

28 he role of microRNAs and epimutations in DNA mismatch repair genes.

29 appears to be lower than that for the other mismatch repair genes.

30 ancer is caused by germline mutations in DNA mismatch repair genes.

31 Lynch syndrome, which is due to mutations in mismatch repair genes.

32 is due to a mutation in one of at least five mismatch repair genes.

33 ses harbored unique somatic mutations in MLH mismatch-repair genes.

34 from nonmutators, often due to mutations in mismatch-repair genes.

35 MSI is caused by the dysfunction of mismatch repairs genes.

36 indings, followed by CHEK2 (13%), ATM (12%), mismatch repair genes (11%), and PALB2 (5%).

37 adults with pathogenic germline variants in mismatch repair genes (60% women; mean age, 47 +/- 14 ye

38 In addition, oncogenic DNA mismatch repair gene alterations were present in 8.0% of

39 prevalence of mutations in the MLH1 or MSH2 mismatch-repair genes among patients with colorectal can

40 genic germline variants in genes such as DNA mismatch repair genes and BRCA1/2.

41 ynch syndrome, is caused by mutations in the mismatch repair genes and confers an extraordinarily hig

42 ncers to result from the loss of function of mismatch repair genes and hence demonstrate microsatelli

43 incidence and of the impact of the specific mismatch-repair gene and genotype on cancer onset and su

44 BRCA2, ATM, PALB2, BRCA1, STK11, CDKN2A and mismatch-repair genes and low-penetrance loci are associ

45 mas are associated with somatic mutations of mismatch repair genes, and several genes with coding reg

46 Lynch syndrome, microsatellite instability, mismatch repair genes, and terms related to the biology

47 and NBN MRN complex genes; the MLH1 and PMS2 mismatch repair genes; and NF1 were not associated with

48 ckpoint inhibitor-based regimen because of a mismatch repair gene anomaly are presented.

49 Defects in APC and DNA mismatch repair genes are associated with a strong predi

50 e the extent to which somatic alterations in mismatch repair genes are associated with this MI; and (

51 Some colon cancers with mutations in DNA mismatch repair genes are characterized by genomic insta

52 The predicted T. brucei mismatch repair genes are diverged compared with their l

53 provide some evidence that mutations in DNA mismatch repair genes are early somatic events in colon

54 Mismatch repair genes are important in maintaining the f

55 d MLH1, whereas germ-line mutations in other mismatch repair genes are rare.

56 ic MSI colon cancers hMLH1 and all other DNA mismatch repair genes are wild type.

57 methylcytosine and the silencing of the MLH1 mismatch repair gene by DNA methylation in colorectal tu

58 Mutations in the mismatch repair genes cause hereditary nonpolyposis colo

59 tions are responsible for FAP, and defective mismatch repair genes cause HNPCC.

60 Pathogenic germline variants of mismatch repair genes cause Lynch syndrome (LS), a hered

61 Defects in human mismatch repair genes cause Lynch syndrome or hereditary

62 Defects in mismatch repair genes cause the genetic instability char

63 colorectal cancer caused by mutations in DNA mismatch repair genes; colorectal cancer risk is high.

64 ARP) inhibitor or platinum chemotherapy, and mismatch repair gene defects and microsatellite instabil

65 We find that the DNA mismatch repair genes destabilize microsatellites with r

66 hat somatic mutational inactivation of known mismatch repair genes does not account for the great maj

67 interval colon cancers to be associated with mismatch repair gene dysfunction.

68 Human mismatch repair genes encode highly conserved interactin

69 Mutations in mismatch repair genes (EXO1, MSH2, and MSH6) were associ

70 In addition, a prognostic role for mismatch repair gene expression in prostate cancer has b

71 mismatch repair deficiency and differential mismatch repair gene expression in prostate cancer.

72 Although additional research is required, mismatch repair gene expression may have important biolo

73 cancer led to more specific investigation of mismatch repair gene expression.

74 Mutations in the DNA mismatch repair gene family underlie the MMP, a landmark

75 MutS homolog 4) is a member of the mammalian mismatch repair gene family whose members are involved i

76 The newest member of the mismatch repair gene family, GTBP, has recently been ide

77 H3 is a recently described member of the DNA mismatch repair gene family.

78 ereditary breast and ovarian cancer, and DNA mismatch repair genes for suspected Lynch syndrome.

79 used by mutations resulting in defective DNA mismatch repair gene function.

80 , the proportion of sporadic tumors in which mismatch repair genes have been inactivated has not been

81 Somatic mutations in DNA mismatch repair genes have been observed in sporadic tum

82 human tumor cell lines with mutations in DNA mismatch repair genes have contributed to the understand

83 are deficient in either the Pms2 or Msh2 DNA mismatch repair genes have microsatellite instability an

84 S), who carry a pathogenic mutation in a DNA mismatch repair gene, have increased risks of colorectal

85 Expression of the DNA mismatch repair gene hMLH1 is diminished or absent in so

86 The DNA mismatch repair gene hMLH1 is reported to function in mu

87 us of the tumor suppressor gene p16, the DNA mismatch repair gene hMLH1, and four CpG islands (MINT1,

88 o be due to large genomic alterations in the mismatch repair genes hMLH1 and hMSH2.

89 AXIN1 (axin), CTNNB1 (beta-catenin), and the mismatch repair genes hMLH1 and hMSH2.

90 Because the frequency of mutations in the mismatch repair genes (hMLH1 and hMSH2) is low in these

91 ozygous deletion region, adjacent to the DNA mismatch repair gene, hMLH1, and identified deletions in

92 expression and mutation in one of the major mismatch repair genes, hMLH1, and the methylation of CpG

93 ssociated with germline mutations in the DNA mismatch repair gene hMSH2 [1], the human homologue of t

94 monoclonal antibodies to the prototype human mismatch repair gene hMSH2 and used them to detect an im

95 Mutations of the mismatch repair genes hMSH2 and hMLH1 have been found in

96 The coding regions of mismatch repair genes hMSH2 and hMLH1 were sequenced fro

97 The human DNA mismatch repair genes hMSH2 and hMSH6 encode the protein

98 The genomic loci for the mismatch repair genes hMSH2 and hMSH6 were mapped by flu

99 In humans, mutations in the mismatch repair genes hMSH2, hMLH1, hPMS1 and hPMS2 resu

100 Mutations in the human mismatch repair genes hMSH2, hMLH1, hPMS1, and hPMS2 are

101 als) with high-score ESE motifs in the human mismatch-repair genes hMSH2 and hMLH1.

102 ve been identified through mutations in four mismatch repair genes (hMSH2, hMLH1, hPMS1, and hPMS2) a

103 ygosity at microsatellites linked to the DNA mismatch repair genes, hMSH2 and/or hMLH1, was found in

104 owth factor II receptor IGFIIR, and even the mismatch repair gene hMSH6.

105 tes that mutations in either one of four DNA mismatch repair gene homologues or the adenomatous polyp

106 n inherited mutation in one of several known mismatch repair genes; however, the role of microsatelli

107 extent and timing of allelic loss of two DNA mismatch repair genes, human Mut S homologue-2 (hMSH2) a

108 aused by germline pathogenic variants in DNA mismatch repair genes (ie, MLH1, MSH2, MSH6, and PMS2) a

109 lelic and bi-allelic methylation of the MLH1 mismatch repair gene in human colorectal tumor specimens

110 duced DNA damage in yeast strains mutated in mismatch repair genes in an effort to confirm a defect i

111 t strains heterozygous for null mutations of mismatch repair genes in diploid strains in yeast confer

112 has been attributed to mutations in four DNA mismatch repair genes in hereditary nonpolyposis colorec

113 Knocking-out specific mismatch repair genes in mouse models of Huntington's di

114 d (C)8 tracts within the hMSH3 and hMSH6 DNA mismatch repair genes in sporadic colon cancer of the MM

115 m such tumors implicating genetic defects of mismatch repair genes in the development of such tumors.

116 f four genes, APC, Cox-2, DCC/Smad4, and the mismatch repair genes, in colorectal carcinogenesis.

117 methylation is likely to be a common mode of mismatch repair gene inactivation in sporadic tumors.

118 Germ line mutations in DNA mismatch repair genes including MLH1 cause hereditary no

119 Seventeen EOC cases carried a mutation in a mismatch repair gene, including 10 MSH6 mutation carrier

120 Mutations of DNA mismatch repair genes, including the hMLH1 gene, have be

121 ata are emerging that pathogenic variants in mismatch repair genes increase the risk of early-onset a

122 ased with combined heterozygosity of Msh2, a mismatch repair gene involved in oxidative DNA damage re

123 e study, a decreased expression level of DNA mismatch repair genes involved in SHM in older individua

124 ed somewhat expected modifiers, particularly mismatch repair genes involved in the CAG repeat instabi

125 ectal tumorigenesis, loss of function of the mismatch repair genes is closely associated with genomic

126 yndrome, caused by germline mutations in the mismatch repair genes, is associated with increased canc

127 bility (MSI) and promoter methylation of DNA mismatch repair genes, is common in individual glands of

128 those in some other members of the family of mismatch repair genes, lead to cancer susceptibility, an

129 By targeting the DNA mismatch repair gene MLH1 CGI, we could generate a PSC m

130 n accumulation in organoids deficient in the mismatch repair gene MLH1 is driven by replication error

131 ypermethylation of many genes, including the mismatch repair gene MLH1.

132 ely in tumors with low expression of the DNA mismatch repair gene MLH1.

133 ylation and transcriptional silencing of the mismatch repair gene MLH1.

134 Germline hypermethylation of the DNA mismatch repair genes MLH1 and MSH2 may serve as predisp

135 rome is caused primarily by mutations in the mismatch repair genes MLH1 and MSH2.

136 for MSI, and promoter methylation of the DNA mismatch repair genes MLH1, MSH2, MLH3, MSH6, PMS2, MGMT

137 a fraction higher than that attributable to mismatch repair genes MLH1, MSH2, MSH6 and PMS2.

138 yndrome caused by pathogenic variants in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2, that ca

139 ple, lung samples with low expression of the mismatch-repair gene MLH1 show a mutation signature of d

140 Germ-line mutations in the mismatch-repair genes MLH1, MSH2, MSH6, and PMS2 lead to

141 was analyzed for mutations in LS-associated mismatch repair genes ( MLH1, MSH2, MSH6, PMS2, EPCAM).

142 that is caused by pathogenic variants in the mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM).

143 Here mice deficient in another mismatch repair gene, Mlh1, possess not only microsatell

144 ozygous for a targeted disruption of the DNA mismatch repair gene, Mlh1.

145 l repair genes, RAD51 and BRCA1, and the DNA mismatch repair genes, MLH1 and MSH2, are decreased in e

146 s of the developmental gene vasa and the DNA mismatch repair gene mlh3.

147 erstood compared with other Lynch-associated mismatch repair gene (MMR) mutations.

148 as in MSI+ tumors with known mutations of a mismatch repair gene (MMR).

149 everal mechanisms, including inactivation of mismatch repair genes (MMR) or induction of error-prone

150 PCC) is caused by inherited mutations in DNA mismatch-repair genes, most commonly MLH1 or MSH2.

151 Caenorhabditis elegans homologue of the MSH2 mismatch repair gene (msh-2), we isolated a strain of C.

152 Large germline deletions within the mismatch repair gene MSH2 account for a significant prop

153 Mutations in the human DNA mismatch repair gene MSH2 are associated with hereditary

154 Strains carrying alterations in mismatch repair gene MSH2 exhibit a higher propensity to

155 Disruption of the mismatch repair gene MSH2 greatly reduces but does not e

156 n rates occurred in strains deficient in the mismatch repair gene MSH2 or the recombination gene RAD5

157 ozygosity for germ-line mutations in the DNA mismatch repair gene MSH2 predisposes humans to cancer.

158 ition, we determined the contribution of the mismatch repair gene MSH2 to transcription-coupled repai

159 Strains containing disruptions of the mismatch repair gene MSH2, MSH3, or PMS1 or the recombin

160 In combination with a deletion of the mismatch repair gene MSH2, the +1 frameshift mutation ra

161 Germline mutations in the DNA mismatch repair genes MSH2 and MLH1 are responsible for

162 ng regions and exon-intron boundaries of the mismatch repair genes MSH2 and MLH1.

163 Here, we show that the mismatch repair genes MSH2 and MSH3 function in mitotic

164 rre syndrome showed loss of staining for the mismatch repair genes MSH2 and MSH6.

165 tested these predictions by deleting the DNA mismatch repair genes MSH2 or MLH1 and analyzing the pro

166 tly reduced in strains with mutations in the mismatch repair genes MSH2 or MSH3, but unaffected by a

167 Epistasis analyses with mutations in mismatch repair genes MSH2, MLH1, and PMS1 suggest that

168 on-coupled repair caused by mutations in the mismatch repair genes MSH2, MLH1, PMS1, and MSH3.

169 mutations in the human homologues of the DNA mismatch repair genes MSH2, MLH1, PMS1, and PMS2.

170 Mice with mutations in the mismatch repair genes, Msh2 and Mlh1, exhibit a mismatch

171 due primarily to inherited mutations in two mismatch repair genes, MSH2 and MLH1, whereas germ-line

172 ains containing point mutations in the yeast mismatch repair genes, MSH2, MSH3, MLH1, and PMS1.

173 r due to the inactivation of one of the four mismatch repair genes: MSH2, MLH1, MSH6, and PMS2.

174 The mismatch repair gene MSH3 has become a major focus for t

175 The mismatch repair gene MSH3 has been implicated as a genet

176 CA, FANCG, ERCC4, FANCE and FANCI, while DNA mismatch repair genes MSH3 and PMS1 outranked known name

177 -of-function (LoF) germline mutations in the mismatch-repair gene MSH3.

178 The DNA mismatch repair gene, MSH3, identified as a genetic modi

179 was detected for a variant rs1800932 in the mismatch repair gene MSH6 (P = 1.9 x 10(-9)), which was

180 Mice carrying a null mutation in the mismatch repair gene Msh6 were generated by gene targeti

181 The mismatch repair genes MSH6, MLH1, and PMS1, whose produc

182 screened for mutations in two additional DNA mismatch repair genes, MSH6 and MSH3.

183 ing endometrial cancer risk for women with a mismatch repair gene mutation (Lynch syndrome).

184 Lifetime risks of CRC and EC in mismatch repair gene mutation carriers are high even aft

185 tive cohort study included 1128 women with a mismatch repair gene mutation identified from the Colon

186 ed, these findings suggest that women with a mismatch repair gene mutation may be counseled like the

187 However, the majority of published DNA mismatch repair gene mutation surveys associated with HN

188 For women with a mismatch repair gene mutation, some endogenous and exoge

189 We studied 147 families with mismatch repair gene mutations (55 MLH1, 81 MSH2, and 11

190 erential mutational burden downstream of DNA mismatch repair gene mutations and composite gene expres

191 ated, and that all hypermutated cancers have mismatch repair gene mutations and microsatellite instab

192 the importance of germline non-BRCA HRR and mismatch repair gene mutations for predicting familial r

193 al carcinoma, mismatch repair deficiency and mismatch repair gene mutations have been described in sp

194 Recent studies of germline mismatch repair gene mutations have suggested that HNPCC

195 rectal Cancer (HNPCC) is due to germline DNA mismatch repair gene mutations in most cases.

196 Moreover, recent research suggests that DNA mismatch repair gene mutations may facilitate acquisitio

197 Inherited mismatch repair gene mutations predispose to gastrointes

198 (HNPCC) do not have evidence of the germline mismatch repair gene mutations that define this syndrome

199 Pathogenic germline mismatch repair gene mutations were identified in 7 indi

200 ime cancer risk associated with germline DNA mismatch repair gene mutations, irrespective of their fa

201 Recent reports have identified mismatch repair gene mutations, mismatch repair deficien

202 re syndrome (MTS) are caused by germline DNA mismatch repair gene mutations.

203 Here, we identified mismatch repair gene mutL homolog 1 (MLH1) as a genetic

204 In contrast, mismatch repair gene mutL homolog 1 (MLH1) is a tumor-su

205 Expression of the mismatch repair gene MutL homolog 1 (MLH1) is silenced i

206 mutation rate lie in the same region of the mismatch repair gene mutL.

207 n Helicobacter pylori, which lacks mutS1 and mismatch repair genes mutL and mutH.

208 ng S. Enteritidis harbored a mutation in the mismatch repair gene mutS that accelerated the genomic m

209 g S. Enteritidis harboured a mutation in the mismatch repair gene mutS that accelerated the genomic m

210 nal regulators, lrhA, lrp, slyA, and papX; a mismatch repair gene, mutS; and one hypothetical gene, y

211 identification of germline mutations in DNA mismatch repair genes (n = 47) or biallelic MUTYH mutati

212 ases in mutation rates owing to mutations in mismatch-repair genes; no populations evolving in the ab

213 for therapeutic development, as unlike other mismatch repair genes, nullizygosity for MSH3 does not c

214 is known to be caused either by mutations in mismatch repair genes or by aberrant methylation of thes

215 xa is not commonly associated with a loss of mismatch repair genes or microsatellite instability.

216 in base-excision (P = 2.4 x 10(-4)) and DNA mismatch repair genes (P = 6.1 x 10(-4)) consistent with

217 Tumors that develop via the mismatch repair gene pathway demonstrate rapid tumor gro

218 ed the role that methylation of the MLH1 DNA mismatch repair gene plays in the genesis of MSI in a la

219 Hybrids lacking mismatch repair genes PMS1 or MSH2 display increased mei

220 bserved in strains with mutations in the DNA mismatch repair genes pms1, msh2 and msh3, indicating th

221 assay system to examine the effects of yeast mismatch repair genes (PMS1, MSH2, and MSH3) on crossove

222 ice homozygous for a disrupted allele of the mismatch repair gene Pms2 have a mutator phenotype.

223 A nucleotide excision repair gene Xpa or the mismatch repair gene Pms2.

224 ocess is accelerated in mice lacking the DNA mismatch repair gene Pms2.

225 mice with mutations in both Apc and the DNA mismatch repair gene, Pms2.

226 somatic mutations in the DNA proofreading or mismatch repair genes POLE, MLH1, and MSH6 and the tumor

227 Arabidopsis mismatch repair genes predict MutS-like proteins remarka

228 mutations involving BRCA1, BRCA2, PRSS1, and mismatch repair genes predispose patients to PDAC.

229 Absence of nuclear hMSH2 mismatch repair gene product by immunohistochemistry was

230 ation of the human mut-L homologue 1 (hMLH1) mismatch repair gene promoter and diminished hMLH1 expre

231 r microsatellite instability, and absence of mismatch repair genes provides an opportunity for diagno

232 optotic gene BAX and the hMSH3 and hMSH6 DNA mismatch repair genes, respectively.

233 petitive sequences, while mutations in human mismatch repair genes result in hereditary nonpolyposis

234 rmline mutation in either the hMSH2 or hMLH1 mismatch repair gene results in the hereditary nonpolypo

235 Genetic or epigenetic inactivation of DNA mismatch repair genes results in a strong mutator phenot

236 rabidopsis homologue of the prokaryotic MutL mismatch repair gene, reveals that it is expressed in re

237 n the distribution of mutations in different mismatch-repair genes seen in hereditary nonpolyposis co

238 by immunohistochemistry (IHC) of one of the mismatch repair genes since both signify an abnormality

239 However, mutations of other mismatch repair genes such as hPMS2 can lead to a mutato

240 bility (MSI) is caused by the dysfunction of mismatch repair genes, such as hMLH1, hMSH2.

241 oncise contribution of each of the known DNA mismatch repair genes to the HNPCC phenotype remains unk

242 ns, c-MYC increases the vulnerability of key mismatch repair genes to treatment-induced mutagenesis,

243 with wild-type copies of either mutL or the mismatch repair gene uvrD rescued the wild-type mutation

244 eas aberrant methylation of any of the other mismatch repair genes was not observed.

245 abnormal, complete mutation analysis for the mismatch repair genes was performed.

246 omatous polyposis coli gene (Apc) and/or DNA mismatch repair genes, we have analyzed the genetic cont

247 enetic and epigenetic modifications of these mismatch repair genes were also identified.

248 ntire coding regions of the five known human mismatch repair genes were evaluated in 48 kindreds with

249 rcinomas maintained strong staining of the 4 mismatch repair genes, while tumor from the patient with

250 ll patients with identified mutations in the mismatch repair genes, whose tumors were available for a

251 disease treatment included BRCA2, BRCA1, and mismatch repair genes, with broader testing, such as ATM